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Orthoebolavirus
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NCBITaxon_3044781 |
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Orthoflavivirus
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NCBITaxon_3044782 |
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Flaviviridae
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NCBITaxon_11050 |
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susceptibility to autism 6
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MIM_609378 |
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monocyclic compound
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CHEBI_33661 |
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combined oxidative phosphorylation deficiency 53
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DOID_0070426 |
[A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33.] |
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combined oxidative phosphorylation deficiency
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DOID_0060286 |
[A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.] |
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combined oxidative phosphorylation deficiency 54
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DOID_0070427 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.] |
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combined oxidative phosphorylation deficiency 44
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DOID_0070424 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.] |
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combined oxidative phosphorylation deficiency 52
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DOID_0070425 |
[A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.] |
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syndromic X-linked intellectual disability Pilorge type
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DOID_0070422 |
[A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.] |
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hypothalamus
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UBERON_0001898 |
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early onset progressive encephalopathy with brain atrophy and thin corpus callosum
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DOID_0070423 |
[An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25.] |
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developmental delay, hypotonia, and impaired language
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DOID_0070420 |
[An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31.] |
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neurodevelopmental disorder with spasticity and poor growth
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DOID_0070421 |
[An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23.] |
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combined oxidative phosphorylation deficiency 55
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DOID_0070428 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.] |
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combined oxidative phosphorylation deficiency 56
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DOID_0070429 |
[A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25.] |
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central nervous system cell part cluster
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UBERON_0011215 |
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heterobicyclic compound
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CHEBI_33672 |
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heterocyclic compound
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CHEBI_5686 |
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